#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCD3	5825	genome.wustl.edu	37	1	94946144	94946144	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr1:94946144C>T	ENST00000370214.4	+	9	833	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ABCD3_ENST00000454898.2_Missense_Mutation_p.S294F|ABCD3_ENST00000394233.2_Missense_Mutation_p.S270F|ABCD3_ENST00000536817.1_Missense_Mutation_p.S197F	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	270	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TATGTTAATTCTCGGCTCATC	0.338																																						dbGAP											0													104.0	101.0	102.0					1																	94946144		2203	4300	6503	-	-	-	SO:0001583	missense	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.809C>T	1.37:g.94946144C>T	ENSP00000359233:p.Ser270Phe		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.S294F	ENST00000370214.4	37	c.881	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583540	0.86748	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48	5.13	5.13	0.70059	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	D	0.96988	0.9720	10	0.87932	D	0	-2.7359	18.954	0.92650	0.0:1.0:0.0:0.0	.	294;270;270	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	F	270;294;197;270	ENSP00000377780:S270F;ENSP00000403357:S294F;ENSP00000440692:S197F;ENSP00000359233:S270F	ENSP00000359233:S270F	S	+	2	0	ABCD3	94718732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.273000	0.78527	2.558000	0.86282	0.650000	0.86243	TCT	ABCD3	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	ENSG00000117528		0.338	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	123	0.00	0	C	NM_002858		94946144	94946144	+1	no_errors	ENST00000454898	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	1.000	T
ACAD11	84129	genome.wustl.edu	37	3	132277859	132277859	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr3:132277859T>C	ENST00000264990.6	-	20	3270	c.2299A>G	c.(2299-2301)Atg>Gtg	p.M767V	ACAD11_ENST00000545291.1_Missense_Mutation_p.M292V|ACAD11_ENST00000355458.3_Missense_Mutation_p.M663V	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	767					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CGCAGCTCCATTGTTGCGATT	0.463																																						dbGAP											0													134.0	119.0	124.0					3																	132277859		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2299A>G	3.37:g.132277859T>C	ENSP00000264990:p.Met767Val		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.M767V	ENST00000264990.6	37	c.2299	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	T	7.088	0.571518	0.13623	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.95656	-3.77;-3.77;-3.77	5.28	-0.121	0.13535	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	.	.	.	.	D	0.91061	0.7187	L	0.43152	1.355	0.44694	D	0.997681	B	0.29955	0.263	B	0.28849	0.095	T	0.83023	-0.0166	9	0.54805	T	0.06	.	7.871	0.29565	0.2331:0.0:0.4744:0.2925	.	767	Q709F0	ACD11_HUMAN	V	663;767;292	ENSP00000347636:M663V;ENSP00000264990:M767V;ENSP00000446263:M292V	ENSP00000264990:M767V	M	-	1	0	ACAD11	133760549	0.107000	0.21998	0.059000	0.19551	0.029000	0.11900	0.297000	0.19101	-0.255000	0.09486	0.533000	0.62120	ATG	ACAD11	-	superfamily_AcylCo_DH/oxidase_C	ENSG00000240303		0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	177	0.00	0	T	NM_032169		132277859	132277859	-1	no_errors	ENST00000264990	ensembl	human	known	69_37n	missense	66	29.79	28	SNP	0.226	C
ACAP1	9744	genome.wustl.edu	37	17	7251307	7251307	+	Silent	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr17:7251307G>A	ENST00000158762.3	+	15	1616	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	470	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V470V(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGAACTAGTGAAGGTAACTT	0.592																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											85.0	78.0	80.0					17																	7251307		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1410G>A	17.37:g.7251307G>A			Q53XN9	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.V470	ENST00000158762.3	37	c.1410	CCDS11101.1	17																																																																																			ACAP1	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	ENSG00000072818		0.592	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	120	0.00	0	G	NM_014716		7251307	7251307	+1	no_errors	ENST00000158762	ensembl	human	known	69_37n	silent	28	54.10	33	SNP	0.999	A
ADIPOQ	9370	genome.wustl.edu	37	3	186572475	186572475	+	Silent	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr3:186572475C>T	ENST00000412955.2	+	3	858	c.717C>T	c.(715-717)ctC>ctT	p.L239L	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Silent_p.L239L|ADIPOQ_ENST00000320741.2_Silent_p.L239L			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	239	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GCTTTCTTCTCTACCATGACA	0.488																																						dbGAP											0													90.0	92.0	91.0					3																	186572475		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.717C>T	3.37:g.186572475C>T			Q58EX9	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.L239	ENST00000412955.2	37	c.717	CCDS3284.1	3																																																																																			ADIPOQ	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	ENSG00000181092		0.488	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOQ	HGNC	protein_coding	OTTHUMT00000344490.2	24	0.00	0	C	NM_004797		186572475	186572475	+1	no_errors	ENST00000320741	ensembl	human	known	69_37n	silent	3	57.14	4	SNP	0.999	T
AGAP1	116987	genome.wustl.edu	37	2	236715952	236715952	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr2:236715952G>A	ENST00000304032.8	+	9	1607	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	AGAP1_ENST00000409457.1_Missense_Mutation_p.G343S|AGAP1_ENST00000336665.5_Missense_Mutation_p.G343S|AGAP1_ENST00000428334.2_Missense_Mutation_p.G182S|AGAP1_ENST00000409538.1_Missense_Mutation_p.G608S	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	343					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATTGGGAGCGGCCGAGCCAT	0.572																																						dbGAP											0													85.0	86.0	86.0					2																	236715952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1027G>A	2.37:g.236715952G>A	ENSP00000307634:p.Gly343Ser		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.G343S	ENST00000304032.8	37	c.1027	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.468092	0.96257	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	D;T;T;T;T	0.90732	-2.72;-0.93;-0.98;-0.89;0.16	5.0	5.0	0.66597	.	0.058978	0.64402	D	0.000002	D	0.93792	0.8015	L	0.48877	1.53	0.80722	D	1	D;P	0.89917	1.0;0.787	D;B	0.91635	0.999;0.143	D	0.94371	0.7596	10	0.72032	D	0.01	.	18.7171	0.91679	0.0:0.0:1.0:0.0	.	343;343	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	S	343;343;343;608;182	ENSP00000387174:G343S;ENSP00000307634:G343S;ENSP00000338378:G343S;ENSP00000386897:G608S;ENSP00000411824:G182S	ENSP00000307634:G343S	G	+	1	0	AGAP1	236380691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.486000	0.97944	2.490000	0.84030	0.655000	0.94253	GGC	AGAP1	-	NULL	ENSG00000157985		0.572	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	67	0.00	0	G	NM_014914		236715952	236715952	+1	no_errors	ENST00000304032	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	A
ANGPTL1	9068	genome.wustl.edu	37	1	178834294	178834294	+	Silent	SNP	T	T	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr1:178834294T>G	ENST00000234816.2	-	3	1065	c.618A>C	c.(616-618)cgA>cgC	p.R206R	ANGPTL1_ENST00000367629.1_Silent_p.R206R|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	206					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GGGTGTCTTGTCGGGAAAATA	0.468																																						dbGAP											0													124.0	109.0	114.0					1																	178834294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.618A>C	1.37:g.178834294T>G			Q5T5Z5	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R206	ENST00000234816.2	37	c.618	CCDS1327.1	1																																																																																			ANGPTL1	-	NULL	ENSG00000116194		0.468	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	99	0.00	0	T	NM_004673		178834294	178834294	-1	no_errors	ENST00000234816	ensembl	human	known	69_37n	silent	80	16.67	16	SNP	0.999	G
ANGPTL1	9068	genome.wustl.edu	37	1	178834752	178834752	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr1:178834752G>C	ENST00000234816.2	-	3	607	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L54V|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	54					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCAGGTACCAGGAATGTGTAT	0.413																																						dbGAP											0													240.0	178.0	199.0					1																	178834752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.160C>G	1.37:g.178834752G>C	ENSP00000234816:p.Leu54Val		Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L54V	ENST00000234816.2	37	c.160	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	G	0.943	-0.708788	0.03230	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000444255	T;T	0.51325	0.71;0.71	5.76	2.88	0.33553	.	0.068727	0.64402	D	0.000018	T	0.27594	0.0678	L	0.34521	1.04	0.80722	D	1	B	0.15719	0.014	B	0.17722	0.019	T	0.08126	-1.0737	10	0.07644	T	0.81	.	3.7953	0.08737	0.2954:0.0:0.4492:0.2554	.	54	O95841	ANGL1_HUMAN	V	54	ENSP00000234816:L54V;ENSP00000356601:L54V	ENSP00000234816:L54V	L	-	1	2	ANGPTL1	177101375	0.987000	0.35691	0.997000	0.53966	0.943000	0.58893	0.290000	0.18975	0.363000	0.24346	0.555000	0.69702	CTG	ANGPTL1	-	NULL	ENSG00000116194		0.413	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	331	0.00	0	G	NM_004673		178834752	178834752	-1	no_errors	ENST00000234816	ensembl	human	known	69_37n	missense	294	22.22	84	SNP	0.916	C
ARSA	410	genome.wustl.edu	37	22	51064659	51064659	+	Missense_Mutation	SNP	C	C	T	rs573456864		TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr22:51064659C>T	ENST00000547307.1	-	5	1301	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	ARSA_ENST00000395619.3_Missense_Mutation_p.R301Q|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000547805.1_Missense_Mutation_p.R299Q|ARSA_ENST00000453344.2_Missense_Mutation_p.R215Q|ARSA_ENST00000216124.5_Missense_Mutation_p.R301Q|ARSA_ENST00000395621.3_Missense_Mutation_p.R301Q|ARSA_ENST00000356098.5_Missense_Mutation_p.R301Q			P15289	ARSA_HUMAN	arylsulfatase A	299					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CTTTCCACACCGCAAGAGACC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19140	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													50.0	48.0	49.0					22																	51064659		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.896G>A	22.37:g.51064659C>T	ENSP00000448440:p.Arg299Gln		B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R301Q	ENST00000547307.1	37	c.902		22	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994811	0.74703	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08	5.4	3.32	0.38043	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.176841	0.48767	D	0.000168	D	0.98311	0.9440	M	0.70108	2.13	0.37239	D	0.906047	D	0.89917	1.0	P	0.62184	0.899	D	0.98287	1.0511	10	0.42905	T	0.14	.	6.4665	0.21985	0.0:0.7241:0.0:0.2759	.	299	P15289	ARSA_HUMAN	Q	301;301;299;299;301;215;301	ENSP00000348406:R301Q;ENSP00000216124:R301Q;ENSP00000448440:R299Q;ENSP00000448932:R299Q;ENSP00000378983:R301Q;ENSP00000412542:R215Q;ENSP00000378981:R301Q	ENSP00000216124:R301Q	R	-	2	0	ARSA	49411525	0.987000	0.35691	0.763000	0.31416	0.335000	0.28730	1.946000	0.40283	1.284000	0.44531	0.609000	0.83330	CGG	ARSA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000100299		0.647	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		37	0.00	0	C	NM_000487		51064659	51064659	-1	no_errors	ENST00000216124	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.980	T
ATG16L1	55054	genome.wustl.edu	37	2	234164823	234164823	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr2:234164823C>T	ENST00000392017.4	+	2	448	c.191C>T	c.(190-192)cCa>cTa	p.P64L	ATG16L1_ENST00000392018.1_Missense_Mutation_p.P64L|ATG16L1_ENST00000347464.5_Missense_Mutation_p.P64L|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P64L|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P64L	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	64					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CATGACGTACCAAACAGGCAC	0.333																																						dbGAP											0													76.0	75.0	76.0					2																	234164823		1853	4089	5942	-	-	-	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.191C>T	2.37:g.234164823C>T	ENSP00000375872:p.Pro64Leu		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P64L	ENST00000392017.4	37	c.191	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605267	0.46423	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000444735;ENST00000373525;ENST00000419681;ENST00000417017;ENST00000392020;ENST00000392018	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.96;0.89;1.54;0.85;0.84	5.7	4.75	0.60458	Autophagy-related protein 16 (1);	0.078261	0.52532	U	0.000077	T	0.39655	0.1086	L	0.34521	1.04	0.24507	N	0.994224	B;B;B;P	0.37594	0.076;0.034;0.094;0.601	B;B;B;B	0.39706	0.068;0.062;0.111;0.307	T	0.34502	-0.9826	10	0.38643	T	0.18	.	13.4106	0.60940	0.2674:0.7326:0.0:0.0	.	64;64;64;64	Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;A16L1_HUMAN;.	L	64	ENSP00000375872:P64L;ENSP00000318259:P64L;ENSP00000409215:P64L;ENSP00000362625:P64L;ENSP00000398773:P64L;ENSP00000375875:P64L;ENSP00000375873:P64L	ENSP00000318259:P64L	P	+	2	0	ATG16L1	233829562	1.000000	0.71417	0.941000	0.38009	0.983000	0.72400	4.872000	0.63050	2.683000	0.91414	0.655000	0.94253	CCA	ATG16L1	-	pfam_Autophagy-rel_prot_16	ENSG00000085978		0.333	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	HGNC	protein_coding	OTTHUMT00000257069.2	102	0.00	0	C	NM_017974		234164823	234164823	+1	no_errors	ENST00000392017	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	T
ATP8B2	57198	genome.wustl.edu	37	1	154313476	154313476	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr1:154313476C>T	ENST00000368489.3	+	13	1280	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.T413M|RNU7-57P_ENST00000459540.1_RNA	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	413					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCGACAAGACGGGCACCCTC	0.567																																						dbGAP											0													92.0	87.0	88.0					1																	154313476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1280C>T	1.37:g.154313476C>T	ENSP00000357475:p.Thr427Met		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T427M	ENST00000368489.3	37	c.1280	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758764	0.89843	.	.	ENSG00000143515	ENST00000368489;ENST00000341822	T;D	0.84146	-0.67;-1.81	5.23	5.23	0.72850	.	0.056179	0.64402	D	0.000001	D	0.95642	0.8583	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.97174	0.9846	10	0.87932	D	0	.	17.9478	0.89044	0.0:1.0:0.0:0.0	.	427	P98198-3	.	M	427;413	ENSP00000357475:T427M;ENSP00000340448:T413M	ENSP00000340448:T413M	T	+	2	0	ATP8B2	152580100	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.651000	0.83577	2.720000	0.93068	0.561000	0.74099	ACG	ATP8B2	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000143515		0.567	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	118	0.00	0	C	NM_020452		154313476	154313476	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	1.000	T
BANK1	55024	genome.wustl.edu	37	4	102951292	102951292	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr4:102951292G>A	ENST00000322953.4	+	10	2044	c.1770G>A	c.(1768-1770)atG>atA	p.M590I	BANK1_ENST00000504592.1_Missense_Mutation_p.M575I|BANK1_ENST00000428908.1_Missense_Mutation_p.M457I|BANK1_ENST00000444316.2_Missense_Mutation_p.M560I|BANK1_ENST00000508653.1_Missense_Mutation_p.M457I|RP11-498M5.2_ENST00000505091.1_RNA	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	590					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AATATGACATGATATTGGCCA	0.418																																						dbGAP											0													116.0	128.0	124.0					4																	102951292		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1770G>A	4.37:g.102951292G>A	ENSP00000320509:p.Met590Ile		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.M590I	ENST00000322953.4	37	c.1770	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	5.599	0.295327	0.10622	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.73	-5.43	0.02632	.	1.804760	0.02557	N	0.096279	T	0.26846	0.0657	N	0.17082	0.46	0.09310	N	1	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.15484	0.013;0.007;0.007	T	0.09378	-1.0677	10	0.30078	T	0.28	.	4.0674	0.09866	0.1975:0.4193:0.285:0.0983	.	457;590;575	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	I	575;590;457;457;560	ENSP00000421443:M575I;ENSP00000320509:M590I;ENSP00000412748:M457I;ENSP00000422314:M457I;ENSP00000388817:M560I	ENSP00000320509:M590I	M	+	3	0	BANK1	103170315	0.006000	0.16342	0.000000	0.03702	0.211000	0.24417	-0.195000	0.09546	-0.711000	0.04995	0.491000	0.48974	ATG	BANK1	-	NULL	ENSG00000153064		0.418	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	183	0.00	0	G	NM_017935		102951292	102951292	+1	no_errors	ENST00000322953	ensembl	human	known	69_37n	missense	85	27.97	33	SNP	0.000	A
C5orf42	65250	genome.wustl.edu	37	5	37169245	37169245	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr5:37169245C>G	ENST00000508244.1	-	33	6974	c.6881G>C	c.(6880-6882)aGa>aCa	p.R2294T	C5orf42_ENST00000274258.7_Missense_Mutation_p.R1174T|C5orf42_ENST00000425232.2_Missense_Mutation_p.R2294T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2294						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTTTTTTTCTGGCTTCAGT	0.413																																						dbGAP											0													122.0	122.0	122.0					5																	37169245		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6881G>C	5.37:g.37169245C>G	ENSP00000421690:p.Arg2294Thr		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.R2294T	ENST00000508244.1	37	c.6881	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	4.153	0.026869	0.08054	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.16	-2.19	0.07015	.	1.031730	0.07728	N	0.944837	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34153	-0.9840	10	0.23891	T	0.37	.	1.1946	0.01872	0.3895:0.2527:0.2317:0.1261	.	2294;1174	E9PH94;Q9H799	.;CE042_HUMAN	T	2294;2294;1174;1342;1174	ENSP00000421690:R2294T;ENSP00000389014:R2294T;ENSP00000274258:R1174T;ENSP00000424223:R1342T	ENSP00000274258:R1174T	R	-	2	0	C5orf42	37205002	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.296000	0.08287	-0.632000	0.05553	-1.259000	0.01468	AGA	C5orf42	-	NULL	ENSG00000197603		0.413	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	214	0.47	1	C	NM_023073		37169245	37169245	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	111	26.97	41	SNP	0.000	G
CD83	9308	genome.wustl.edu	37	6	14131848	14131848	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr6:14131848C>T	ENST00000379153.3	+	3	422	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	84	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TCTTTCGACGCCCCCAATGAA	0.547																																						dbGAP											0													130.0	121.0	124.0					6																	14131848		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.251C>T	6.37:g.14131848C>T	ENSP00000368450:p.Ala84Val		Q5THX9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.A84V	ENST00000379153.3	37	c.251	CCDS4532.1	6	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093728	0.36952	.	.	ENSG00000112149	ENST00000379153	T	0.65549	-0.16	5.39	1.56	0.23342	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.687206	0.14432	N	0.319979	T	0.25195	0.0612	M	0.65498	2.005	0.09310	N	1	B	0.17852	0.024	B	0.18561	0.022	T	0.34675	-0.9819	10	0.05436	T	0.98	-0.3608	3.7617	0.08606	0.1718:0.5584:0.0:0.2698	.	84	Q01151	CD83_HUMAN	V	84	ENSP00000368450:A84V	ENSP00000368450:A84V	A	+	2	0	CD83	14239827	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.339000	0.07832	0.338000	0.23692	0.655000	0.94253	GCC	CD83	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000112149		0.547	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD83	HGNC	protein_coding	OTTHUMT00000039916.1	116	0.00	0	C			14131848	14131848	+1	no_errors	ENST00000379153	ensembl	human	known	69_37n	missense	57	38.71	36	SNP	0.001	T
CLCN3	1182	genome.wustl.edu	37	4	170628037	170628037	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr4:170628037C>T	ENST00000513761.1	+	11	2328	c.1769C>T	c.(1768-1770)aCt>aTt	p.T590I	CLCN3_ENST00000360642.3_Missense_Mutation_p.T563I|CLCN3_ENST00000347613.4_Missense_Mutation_p.T590I|CLCN3_ENST00000504131.2_Missense_Mutation_p.T573I	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	590					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACAAGAATGACTGTCTCCCTG	0.433																																						dbGAP											0													137.0	133.0	134.0					4																	170628037		2202	4300	6502	-	-	-	SO:0001583	missense	0			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1769C>T	4.37:g.170628037C>T	ENSP00000424603:p.Thr590Ile		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.T590I	ENST00000513761.1	37	c.1769	CCDS34101.1	4	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912788	0.72983	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.48	5.48	0.80851	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	H	0.99143	4.445	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.987;0.994;0.993;0.994;0.997	D	0.99683	1.0999	10	0.87932	D	0	-10.9717	19.3596	0.94431	0.0:1.0:0.0:0.0	.	563;573;563;590;590	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	I	590;590;563;573;563	ENSP00000424603:T590I;ENSP00000261514:T590I;ENSP00000353857:T563I;ENSP00000424540:T573I;ENSP00000425323:T563I	ENSP00000261514:T590I	T	+	2	0	CLCN3	170864612	1.000000	0.71417	0.995000	0.50966	0.377000	0.30045	7.714000	0.84703	2.568000	0.86640	0.655000	0.94253	ACT	CLCN3	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000109572		0.433	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	HGNC	protein_coding	OTTHUMT00000363210.2	284	0.00	0	C			170628037	170628037	+1	no_errors	ENST00000347613	ensembl	human	known	69_37n	missense	126	47.28	113	SNP	1.000	T
CRLF2	64109	genome.wustl.edu	37	X	1314927	1314927	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chrX:1314927G>A	ENST00000381567.3	-	6	733	c.734C>T	c.(733-735)tCt>tTt	p.S245F	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	0					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGGAGGAGAGACACCATCAG	0.478			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	dbGAP		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0													160.0	164.0	163.0					X																	1314927		1874	4094	5968	-	-	-	SO:0001583	missense	0			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.734C>T	X.37:g.1314927G>A	ENSP00000370979:p.Ser245Phe		Q9H5R3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S245F	ENST00000381567.3	37	c.734		X	.	.	.	.	.	.	.	.	.	.	g	2.169	-0.390451	0.04932	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	D;D	0.98234	-4.81;-4.81	1.56	-2.48	0.06423	.	1.449890	0.04917	U	0.454220	D	0.92084	0.7491	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.88057	0.2791	9	0.09338	T	0.73	-0.8458	2.6192	0.04912	0.4244:0.2657:0.3098:0.0	.	245	Q9HC73	CRLF2_HUMAN	F	245	ENSP00000370979:S245F;ENSP00000383641:S245F	ENSP00000370979:S245F	S	-	2	0	CRLF2	1274927	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.904000	0.01593	-0.625000	0.05604	-0.916000	0.02749	TCT	CRLF2	-	NULL	ENSG00000205755		0.478	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	CRLF2	HGNC	protein_coding		370	0.00	0	G	NM_022148		1314927	1314927	-1	no_errors	ENST00000381567	ensembl	human	known	69_37n	missense	133	28.49	53	SNP	0.001	A
DAGLA	747	genome.wustl.edu	37	11	61508016	61508016	+	Silent	SNP	C	C	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr11:61508016C>G	ENST00000257215.5	+	18	2051	c.1935C>G	c.(1933-1935)gcC>gcG	p.A645A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	645					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCTCGCCAGCCATGCTGCATG	0.587																																						dbGAP											0													203.0	175.0	185.0					11																	61508016		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1935C>G	11.37:g.61508016C>G			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.A645	ENST00000257215.5	37	c.1935	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.587	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	85	0.00	0	C	NM_006133		61508016	61508016	+1	no_errors	ENST00000257215	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	G
DHRS4	10901	genome.wustl.edu	37	14	24424404	24424404	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr14:24424404G>A	ENST00000313250.5	+	2	492	c.289G>A	c.(289-291)Gag>Aag	p.E97K	DHRS4_ENST00000397075.3_Missense_Mutation_p.E97K|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000558263.1_Missense_Mutation_p.E97K|DHRS4_ENST00000397073.2_Missense_Mutation_p.E79K|DHRS4_ENST00000558581.1_Missense_Mutation_p.E97K|DHRS4_ENST00000421831.1_Missense_Mutation_p.E79K|DHRS4_ENST00000559632.1_Missense_Mutation_p.E97K|DHRS4_ENST00000543741.2_Missense_Mutation_p.E97K|DHRS4_ENST00000308178.8_Missense_Mutation_p.E79K|DHRS4_ENST00000382761.3_Missense_Mutation_p.E79K|DHRS4_ENST00000397074.3_Missense_Mutation_p.E97K	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	97					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGAGGACCGGGAGCGGCTGGT	0.672																																						dbGAP											0													24.0	28.0	27.0					14																	24424404		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.289G>A	14.37:g.24424404G>A	ENSP00000326219:p.Glu97Lys		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.E97K	ENST00000313250.5	37	c.289	CCDS9605.1	14	.	.	.	.	.	.	.	.	.	.	.	8.395	0.840539	0.16891	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.87571	1.92;1.92;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	3.63	1.53	0.23141	NAD(P)-binding domain (1);	0.109437	0.64402	D	0.000014	T	0.73001	0.3531	N	0.25031	0.7	0.43517	D	0.995782	B;B;B;B;B;B	0.19073	0.033;0.0;0.002;0.002;0.01;0.0	B;B;B;B;B;B	0.24006	0.024;0.003;0.009;0.006;0.05;0.004	T	0.58261	-0.7667	10	0.08599	T	0.76	.	6.8556	0.24038	0.2734:0.0:0.7266:0.0	.	97;97;97;97;97;97	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	K	97;79;79;79;79;97;97;97	ENSP00000326219:E97K;ENSP00000404147:E79K;ENSP00000380263:E79K;ENSP00000311993:E79K;ENSP00000372209:E79K;ENSP00000380265:E97K;ENSP00000380264:E97K;ENSP00000440508:E97K	ENSP00000311993:E79K	E	+	1	0	DHRS4	23494244	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	1.886000	0.39688	0.747000	0.32809	0.479000	0.44913	GAG	DHRS4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000157326		0.672	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4	HGNC	protein_coding	OTTHUMT00000071857.3	92	0.00	0	G			24424404	24424404	+1	no_errors	ENST00000313250	ensembl	human	known	69_37n	missense	46	36.11	26	SNP	0.994	A
EPHA1	2041	genome.wustl.edu	37	7	143104718	143104718	+	Missense_Mutation	SNP	G	G	A	rs571770871	byFrequency	TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr7:143104718G>A	ENST00000275815.3	-	2	222	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	EPHA1-AS1_ENST00000421648.1_RNA|EPHA1-AS1_ENST00000429289.1_RNA	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	46	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCTTTTGGGGGATCCAGCAGC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17543	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													190.0	207.0	201.0					7																	143104718		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.136C>T	7.37:g.143104718G>A	ENSP00000275815:p.Pro46Ser		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.P46S	ENST00000275815.3	37	c.136	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535835	0.64972	.	.	ENSG00000146904	ENST00000275815	T	0.04502	3.61	5.43	4.55	0.56014	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000019	T	0.08044	0.0201	M	0.68952	2.095	0.45594	D	0.998535	B	0.32876	0.388	B	0.31751	0.135	T	0.04737	-1.0930	10	0.87932	D	0	.	11.9419	0.52905	0.083:0.0:0.917:0.0	.	46	P21709	EPHA1_HUMAN	S	46	ENSP00000275815:P46S	ENSP00000275815:P46S	P	-	1	0	EPHA1	142814840	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	6.323000	0.72891	1.535000	0.49220	-0.136000	0.14681	CCC	EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000146904		0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	140	0.00	0	G			143104718	143104718	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	missense	53	43.62	41	SNP	0.997	A
FLG	2312	genome.wustl.edu	37	1	152286754	152286754	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr1:152286754C>G	ENST00000368799.1	-	3	643	c.608G>C	c.(607-609)aGa>aCa	p.R203T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	203					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTCAAGTCTTTCACTTAG	0.323									Ichthyosis																													dbGAP											0													93.0	100.0	98.0					1																	152286754		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.608G>C	1.37:g.152286754C>G	ENSP00000357789:p.Arg203Thr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R203T	ENST00000368799.1	37	c.608	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169721	0.21621	.	.	ENSG00000143631	ENST00000368799	T	0.00675	5.88	3.68	0.576	0.17380	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	P	0.48764	0.915	B	0.43990	0.438	T	0.21381	-1.0247	9	0.27785	T	0.31	.	1.9935	0.03452	0.2054:0.4771:0.1993:0.1182	.	203	P20930	FILA_HUMAN	T	203	ENSP00000357789:R203T	ENSP00000357789:R203T	R	-	2	0	FLG	150553378	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.568000	0.05909	-0.056000	0.13221	0.460000	0.39030	AGA	FLG	-	NULL	ENSG00000143631		0.323	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	148	0.00	0	C	NM_002016		152286754	152286754	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	78	45.45	65	SNP	0.000	G
FRYL	285527	genome.wustl.edu	37	4	48584566	48584566	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr4:48584566A>C	ENST00000503238.1	-	17	1933	c.1934T>G	c.(1933-1935)aTa>aGa	p.I645R	FRYL_ENST00000358350.4_Missense_Mutation_p.I645R|FRYL_ENST00000506685.1_Missense_Mutation_p.I351R|FRYL_ENST00000507711.1_Missense_Mutation_p.I645R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.I645R			O94915	FRYL_HUMAN	FRY-like	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCACTGATTTATTAATTGTAC	0.368																																						dbGAP											0													131.0	128.0	129.0					4																	48584566		1883	4106	5989	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1934T>G	4.37:g.48584566A>C	ENSP00000426064:p.Ile645Arg		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I645R	ENST00000503238.1	37	c.1934	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524759	0.85600	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67698	3.42;3.42;3.42;3.42;-0.28	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.062767	0.64402	U	0.000011	T	0.69851	0.3157	N	0.19112	0.55	0.80722	D	1	P;D	0.64830	0.771;0.994	P;D	0.63597	0.609;0.916	T	0.74910	-0.3503	10	0.87932	D	0	.	16.1381	0.81502	1.0:0.0:0.0:0.0	.	645;645	F2Z2S2;O94915	.;FRYL_HUMAN	R	645;645;645;645;351	ENSP00000426064:I645R;ENSP00000351113:I645R;ENSP00000441114:I645R;ENSP00000421584:I645R;ENSP00000425592:I351R	ENSP00000351113:I645R	I	-	2	0	FRYL	48279323	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.910000	0.92685	2.258000	0.74832	0.533000	0.62120	ATA	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	300	0.00	0	A			48584566	48584566	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	36	62.11	59	SNP	1.000	C
FUT9	10690	genome.wustl.edu	37	6	96651553	96651553	+	Silent	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr6:96651553C>T	ENST00000302103.5	+	3	848	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	174					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGACGGTAAGCACAAATCCCT	0.463																																					Melanoma(98;1369 1476 6592 22940 26587)	dbGAP											0													63.0	59.0	60.0					6																	96651553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.522C>T	6.37:g.96651553C>T			Q5T0W4	Silent	SNP	pfam_Glyco_trans_10	p.S174	ENST00000302103.5	37	c.522	CCDS5033.1	6																																																																																			FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.463	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	67	0.00	0	C	NM_006581		96651553	96651553	+1	no_errors	ENST00000302103	ensembl	human	known	69_37n	silent	36	23.40	11	SNP	1.000	T
GDI1	2664	genome.wustl.edu	37	X	153668757	153668757	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chrX:153668757G>A	ENST00000447750.2	+	6	958	c.623G>A	c.(622-624)cGc>cAc	p.R208H		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	208					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCGTCAACCGCATCAAGTTG	0.597																																						dbGAP											0													102.0	85.0	91.0					X																	153668757		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.623G>A	X.37:g.153668757G>A	ENSP00000394071:p.Arg208His		P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.R208H	ENST00000447750.2	37	c.623	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.508767	0.96386	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.91996	-2.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.97965	1.0340	10	0.87932	D	0	-11.6759	16.0507	0.80760	0.0:0.0:1.0:0.0	.	208	P31150	GDIA_HUMAN	H	208;192	ENSP00000394071:R208H	ENSP00000358756:R192H	R	+	2	0	GDI1	153321951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.797000	0.99108	2.391000	0.81399	0.600000	0.82982	CGC	GDI1	-	pfam_GDP_dissociation_inhibitor	ENSG00000203879		0.597	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	115	0.00	0	G	NM_001493		153668757	153668757	+1	no_errors	ENST00000447750	ensembl	human	known	69_37n	missense	59	25.93	21	SNP	1.000	A
GH2	2689	genome.wustl.edu	37	17	61958446	61958446	+	Silent	SNP	G	G	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr17:61958446G>C	ENST00000423893.2	-	3	295	c.234C>G	c.(232-234)ctC>ctG	p.L78L	GH2_ENST00000449787.2_Silent_p.L63L|GH2_ENST00000456543.2_Silent_p.L78L|GH2_ENST00000332800.7_Silent_p.L78L			P01242	SOM2_HUMAN	growth hormone 2	78					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTGAGAAGCAGAGGGAGGTCT	0.532																																						dbGAP											0													193.0	205.0	201.0					17																	61958446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.234C>G	17.37:g.61958446G>C			B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.L78	ENST00000423893.2	37	c.234	CCDS11647.1	17																																																																																			GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000136487		0.532	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	138	0.00	0	G	NM_002059		61958446	61958446	-1	no_errors	ENST00000332800	ensembl	human	known	69_37n	silent	137	18.82	32	SNP	0.991	C
HIST1H2AK	8330	genome.wustl.edu	37	6	27805754	27805754	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr6:27805754C>T	ENST00000330180.2	-	1	363	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGTGGCTCTCAGTTTTCTTA	0.542																																						dbGAP											0													86.0	87.0	87.0					6																	27805754		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.364G>A	6.37:g.27805754C>T	ENSP00000330307:p.Glu122Lys		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122K	ENST00000330180.2	37	c.364	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137090	0.37728	.	.	ENSG00000184348	ENST00000330180	T	0.40225	1.04	4.39	4.39	0.52855	.	0.000000	0.31381	U	0.007755	T	0.46210	0.1381	.	.	.	0.37079	D	0.898906	.	.	.	.	.	.	T	0.43147	-0.9409	7	0.40728	T	0.16	.	16.8221	0.85835	0.0:1.0:0.0:0.0	.	.	.	.	K	122	ENSP00000330307:E122K	ENSP00000330307:E122K	E	-	1	0	HIST1H2AK	27913733	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.174000	0.77620	2.358000	0.79984	0.561000	0.74099	GAG	HIST1H2AK	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184348		0.542	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	194	0.00	0	C	NM_003510		27805754	27805754	-1	no_errors	ENST00000330180	ensembl	human	known	69_37n	missense	78	28.83	32	SNP	1.000	T
IER2	9592	genome.wustl.edu	37	19	13264146	13264146	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr19:13264146C>T	ENST00000588173.1	+	1	1358	c.146C>T	c.(145-147)tCg>tTg	p.S49L	IER2_ENST00000292433.3_Missense_Mutation_p.S49L|CTC-250I14.6_ENST00000586483.1_RNA|STX10_ENST00000343587.5_5'Flank|IER2_ENST00000587885.1_Missense_Mutation_p.S49L|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	49						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CTCTACCTCTCGGCCAAGGTG	0.706											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													13.0	14.0	14.0					19																	13264146		2198	4295	6493	-	-	-	SO:0001583	missense	0			M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.146C>T	19.37:g.13264146C>T	ENSP00000465617:p.Ser49Leu	686	Q03827|Q2TAZ2	Missense_Mutation	SNP	pfam_IER	p.S49L	ENST00000588173.1	37	c.146	CCDS12295.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.618049	0.96649	.	.	ENSG00000160888	ENST00000292433	T	0.14516	2.5	4.66	4.66	0.58398	.	0.204868	0.32015	U	0.006712	T	0.39759	0.1090	M	0.80982	2.52	0.47374	D	0.999408	D	0.89917	1.0	D	0.75484	0.986	T	0.40327	-0.9569	10	0.87932	D	0	-12.4569	15.0455	0.71825	0.0:1.0:0.0:0.0	.	49	Q9BTL4	IER2_HUMAN	L	49	ENSP00000292433:S49L	ENSP00000292433:S49L	S	+	2	0	IER2	13125146	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	4.709000	0.61867	2.138000	0.66242	0.462000	0.41574	TCG	IER2	-	pfam_IER	ENSG00000160888		0.706	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IER2	HGNC	protein_coding	OTTHUMT00000453033.1	12	0.00	0	C	NM_004907		13264146	13264146	+1	no_errors	ENST00000292433	ensembl	human	known	69_37n	missense	0	100.00	5	SNP	0.998	T
IMMT	10989	genome.wustl.edu	37	2	86397875	86397875	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr2:86397875C>G	ENST00000410111.3	-	6	1039	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000254636.5_Missense_Mutation_p.E119Q|IMMT_ENST00000442664.2_Missense_Mutation_p.E217Q|IMMT_ENST00000449247.2_Missense_Mutation_p.E207Q|IMMT_ENST00000409051.2_Missense_Mutation_p.E171Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	218					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACATACACTCAATTTTAACT	0.423																																						dbGAP											0													98.0	92.0	94.0					2																	86397875		1875	4111	5986	-	-	-	SO:0001583	missense	0			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.652G>C	2.37:g.86397875C>G	ENSP00000387262:p.Glu218Gln		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	pfam_Mt-IM_prot_Mitofilin	p.E218Q	ENST00000410111.3	37	c.652	CCDS46355.1	2	.	.	.	.	.	.	.	.	.	.	C	5.403	0.259488	0.10239	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000398211	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.27	2.32	0.28847	.	0.711627	0.14195	N	0.335051	T	0.17195	0.0413	N	0.22421	0.69	0.24195	N	0.995539	B;B;B;B;B;B	0.25048	0.001;0.0;0.117;0.056;0.0;0.001	B;B;B;B;B;B	0.30495	0.004;0.005;0.116;0.098;0.003;0.01	T	0.22977	-1.0201	10	0.26408	T	0.33	.	1.5201	0.02514	0.1825:0.3134:0.3242:0.18	.	171;206;215;206;207;218	B9A067;B4DKR1;Q05DN3;B4E2B5;Q16891-2;Q16891	.;.;.;.;.;IMMT_HUMAN	Q	119;207;218;217;171;207;206	ENSP00000254636:E119Q;ENSP00000396899:E207Q;ENSP00000387262:E218Q;ENSP00000407788:E217Q;ENSP00000387227:E171Q	ENSP00000254636:E119Q	E	-	1	0	IMMT	86251386	0.961000	0.32948	0.968000	0.41197	0.013000	0.08279	0.421000	0.21280	0.576000	0.29452	0.561000	0.74099	GAG	IMMT	-	pfam_Mt-IM_prot_Mitofilin	ENSG00000132305		0.423	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2	229	0.00	0	C	NM_006839		86397875	86397875	-1	no_errors	ENST00000410111	ensembl	human	known	69_37n	missense	67	30.93	30	SNP	0.870	G
ITGA9	3680	genome.wustl.edu	37	3	37778398	37778398	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr3:37778398G>A	ENST00000264741.5	+	20	2414	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	720					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCACTAGTATGAATTCAGCGT	0.433																																						dbGAP											0													103.0	99.0	100.0					3																	37778398		2203	4300	6503	-	-	-	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2158G>A	3.37:g.37778398G>A	ENSP00000264741:p.Glu720Lys		Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E720K	ENST00000264741.5	37	c.2158	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706488	0.48412	.	.	ENSG00000144668	ENST00000264741	T	0.44083	0.93	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.395992	0.31507	N	0.007527	T	0.28830	0.0715	L	0.29908	0.895	0.40157	D	0.977018	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	10	0.12103	T	0.63	.	11.9869	0.53153	0.0808:0.0:0.9192:0.0	.	720	Q13797	ITA9_HUMAN	K	720	ENSP00000264741:E720K	ENSP00000264741:E720K	E	+	1	0	ITGA9	37753402	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.194000	0.51005	2.759000	0.94783	0.561000	0.74099	GAA	ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.433	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	198	0.00	0	G	NM_002207		37778398	37778398	+1	no_errors	ENST00000264741	ensembl	human	known	69_37n	missense	94	31.39	43	SNP	1.000	A
KRT17	3872	genome.wustl.edu	37	17	39777865	39777865	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr17:39777865C>T	ENST00000311208.8	-	4	881	c.814G>A	c.(814-816)Gag>Aag	p.E272K	JUP_ENST00000540235.1_Missense_Mutation_p.E431K	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	272	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AACCAATCCTCGGCATCCTTG	0.612																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0													100.0	92.0	95.0					17																	39777865		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.814G>A	17.37:g.39777865C>T	ENSP00000308452:p.Glu272Lys		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.E431K	ENST00000311208.8	37	c.1291	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155997	0.78114	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.93763	-3.28;-3.28	3.69	2.71	0.32032	Prefoldin (1);Filament (1);	0.000000	0.47455	D	0.000231	D	0.93245	0.7848	M	0.86573	2.825	0.35538	D	0.802783	P	0.45078	0.85	B	0.41466	0.358	D	0.94800	0.7970	10	0.87932	D	0	.	11.4089	0.49915	0.0:0.9105:0.0:0.0895	.	272	Q04695	K1C17_HUMAN	K	272;431	ENSP00000308452:E272K;ENSP00000441751:E431K	ENSP00000441751:E431K	E	-	1	0	JUP;KRT17	37031391	1.000000	0.71417	0.732000	0.30844	0.809000	0.45718	4.606000	0.61126	0.903000	0.36546	0.561000	0.74099	GAG	JUP	-	pfam_F,superfamily_Prefoldin	ENSG00000173801		0.612	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	140	0.71	1	C	NM_000422		39777865	39777865	-1	no_errors	ENST00000540235	ensembl	human	known	69_37n	missense	41	40.58	28	SNP	0.997	T
METTL2B	55798	genome.wustl.edu	37	7	128141820	128141820	+	Silent	SNP	A	A	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr7:128141820A>G	ENST00000262432.8	+	9	1024	c.987A>G	c.(985-987)gaA>gaG	p.E329E	METTL2B_ENST00000480046.1_Silent_p.E264E	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	329					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CACTAGAGGAACTGGACACGC	0.463																																						dbGAP											0													61.0	66.0	64.0					7																	128141820		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.987A>G	7.37:g.128141820A>G			B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.E329	ENST00000262432.8	37	c.987	CCDS5803.2	7																																																																																			METTL2B	-	pirsf_MeTrfase_METTL2_prd	ENSG00000165055		0.463	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	113	0.00	0	A	NM_018396		128141820	128141820	+1	no_errors	ENST00000262432	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.938	G
MKL1	57591	genome.wustl.edu	37	22	40807871	40807871	+	Silent	SNP	C	C	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr22:40807871C>A	ENST00000355630.3	-	15	2909	c.2319G>T	c.(2317-2319)ggG>ggT	p.G773G	MKL1_ENST00000407029.1_Silent_p.G773G|MKL1_ENST00000396617.3_Nonsense_Mutation_p.E777*|MKL1_ENST00000402042.1_Silent_p.G723G	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	773	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTTCTCCTTCCCTGGCAGGG	0.552			T	RBM15	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													105.0	115.0	112.0					22																	40807871		2172	4220	6392	-	-	-	SO:0001819	synonymous_variant	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2319G>T	22.37:g.40807871C>A			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Nonsense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.E777*	ENST00000355630.3	37	c.2329	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	C	41	8.884171	0.98990	.	.	ENSG00000196588	ENST00000396617	.	.	.	4.9	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-6.7359	2.4874	0.04601	0.3724:0.3766:0.1291:0.122	.	.	.	.	X	777	.	ENSP00000379861:E777X	E	-	1	0	MKL1	39137817	0.000000	0.05858	0.648000	0.29521	0.962000	0.63368	-0.597000	0.05713	0.048000	0.15891	0.448000	0.29417	GAA	MKL1	-	NULL	ENSG00000196588		0.552	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	30	0.00	0	C	NM_020831		40807871	40807871	-1	no_errors	ENST00000396617	ensembl	human	known	69_37n	nonsense	8	38.46	5	SNP	0.028	A
MPV17L	255027	genome.wustl.edu	37	16	15501892	15501892	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr16:15501892G>C	ENST00000396385.3	+	4	633	c.514G>C	c.(514-516)Gac>Cac	p.D172H	MPV17L_ENST00000287594.7_Nonstop_Mutation_p.*148S|RP11-1021N1.1_ENST00000568222.1_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	172					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						GCAGAGTGGTGACGGCACATT	0.478																																						dbGAP											0													56.0	48.0	51.0					16																	15501892		2197	4300	6497	-	-	-	SO:0001583	missense	0			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.514G>C	16.37:g.15501892G>C	ENSP00000379669:p.Asp172His		B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.D172H	ENST00000396385.3	37	c.514	CCDS45421.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.66|16.66	3.186356|3.186356	0.57909|0.57909	.|.	.|.	ENSG00000156968|ENSG00000156968	ENST00000396385|ENST00000287594	D|.	0.91180|.	-2.8|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.171824|.	0.36703|.	U|.	0.002460|.	T|.	0.71745|.	0.3376|.	.|.	.|.	.|.	0.42842|0.42842	D|D	0.99405|0.99405	D|.	0.89917|.	1.0|.	D|.	0.71184|.	0.972|.	T|.	0.71083|.	-0.4695|.	9|.	0.52906|.	T|.	0.07|.	-10.7968|-10.7968	15.6672|15.6672	0.77238|0.77238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	172|.	Q2QL34|.	MP17L_HUMAN|.	H|S	172|148	ENSP00000379669:D172H|.	ENSP00000379669:D172H|.	D|X	+|+	1|2	0|2	MPV17L|MPV17L	15409393|15409393	1.000000|1.000000	0.71417|0.71417	0.820000|0.820000	0.32676|0.32676	0.740000|0.740000	0.42216|0.42216	6.145000|6.145000	0.71769|0.71769	2.486000|2.486000	0.83907|0.83907	0.471000|0.471000	0.43371|0.43371	GAC|TGA	MPV17L	-	NULL	ENSG00000156968		0.478	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L	HGNC	protein_coding	OTTHUMT00000422450.1	189	0.00	0	G	NM_173803		15501892	15501892	+1	no_errors	ENST00000396385	ensembl	human	known	69_37n	missense	80	36.51	46	SNP	0.994	C
MX1	4599	genome.wustl.edu	37	21	42807920	42807920	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr21:42807920G>C	ENST00000398600.2	+	8	1287	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	MX1_ENST00000455164.2_Missense_Mutation_p.E88Q|MX1_ENST00000398598.3_Missense_Mutation_p.E88Q|MX1_ENST00000288383.6_Intron	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	88	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTCCGTGTTGGAGGCACTGTC	0.587																																						dbGAP											0													75.0	77.0	77.0					21																	42807920		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.262G>C	21.37:g.42807920G>C	ENSP00000381601:p.Glu88Gln		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.E88Q	ENST00000398600.2	37	c.262	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865970	0.91511	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963	D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-3.87;-3.87	4.48	4.48	0.54585	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98997	1.0810	10	0.87932	D	0	-58.6422	16.5923	0.84769	0.0:0.0:1.0:0.0	.	88	P20591	MX1_HUMAN	Q	88	ENSP00000381601:E88Q;ENSP00000381599:E88Q;ENSP00000410523:E88Q;ENSP00000400923:E88Q;ENSP00000402215:E88Q	ENSP00000381599:E88Q	E	+	1	0	MX1	41729790	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	8.385000	0.90163	2.445000	0.82738	0.561000	0.74099	GAG	MX1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	ENSG00000157601		0.587	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	80	0.00	0	G			42807920	42807920	+1	no_errors	ENST00000398598	ensembl	human	known	69_37n	missense	24	64.71	44	SNP	1.000	C
LINC01317	104355287	genome.wustl.edu	37	2	33952087	33952087	+	lincRNA	SNP	C	C	T	rs551687675	byFrequency	TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr2:33952087C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GAGAGGCAAACGGGGCCCTTT	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		15947	0.0		0.0	False		,,,				2504	0.002					dbGAP											0																																										-	-	-			0																															2.37:g.33952087C>T				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.532	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	10	0.00	0	C			33952087	33952087	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	3	57.14	4	SNP	0.006	T
MYCBP2	23077	genome.wustl.edu	37	13	77817214	77817214	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr13:77817214T>C	ENST00000544440.2	-	17	2512	c.2495A>G	c.(2494-2496)cAc>cGc	p.H832R	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H832R|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H870R					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCTAATCTGTGCCTTCTGAT	0.423																																						dbGAP											0													278.0	229.0	246.0					13																	77817214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2495A>G	13.37:g.77817214T>C	ENSP00000444596:p.His832Arg			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.H870R	ENST00000544440.2	37	c.2609		13	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770785	0.31320	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28454	1.61;1.61;1.61	5.48	4.3	0.51218	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.47716	1.5	0.52501	D	0.999954	B	0.02656	0.0	B	0.04013	0.001	T	0.04041	-1.0982	10	0.26408	T	0.33	.	11.0367	0.47804	0.0:0.073:0.0:0.927	.	832	O75592	MYCB2_HUMAN	R	832;870;832	ENSP00000349892:H832R;ENSP00000384288:H870R;ENSP00000444596:H832R	ENSP00000349892:H832R	H	-	2	0	MYCBP2	76715215	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.522000	0.67092	0.913000	0.36797	0.455000	0.32223	CAC	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold	ENSG00000005810		0.423	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	461	0.00	0	T	NM_015057		77817214	77817214	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	162	33.47	82	SNP	1.000	C
NUP98	4928	genome.wustl.edu	37	11	3700873	3700873	+	Missense_Mutation	SNP	G	G	A	rs201086399		TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr11:3700873G>A	ENST00000324932.7	-	31	5404	c.4984C>T	c.(4984-4986)Cgc>Tgc	p.R1662C	NUP98_ENST00000355260.3_Missense_Mutation_p.R1588C|NUP98_ENST00000359171.4_Missense_Mutation_p.R1588C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1679					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGGCTGCTGCGCTCTGGAGGT	0.453			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													81.0	75.0	77.0					11																	3700873		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4984C>T	11.37:g.3700873G>A	ENSP00000316032:p.Arg1662Cys		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.R1662C	ENST00000324932.7	37	c.4984	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.89|15.89	2.967970|2.967970	0.53507|0.53507	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.057665	.|0.64402	.|D	.|0.000001	T|T	0.69940|0.69940	0.3167|0.3167	L|L	0.47716|0.47716	1.5|1.5	0.37439|0.37439	D|D	0.914324|0.914324	.|B;B;D	.|0.89917	.|0.004;0.042;1.0	.|B;B;D	.|0.63703	.|0.003;0.014;0.917	T|T	0.72704|0.72704	-0.4213|-0.4213	5|9	.|0.54805	.|T	.|0.06	-10.1306|-10.1306	18.9866|18.9866	0.92773|0.92773	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1588;1662;1576	.|P52948-2;P52948-5;P52948-6	.|.;.;.	V|C	614|1662;1588;1588	.|.	.|ENSP00000316032:R1662C	A|R	-|-	2|1	0|0	NUP98|NUP98	3657449|3657449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.385000|6.385000	0.73182|0.73182	2.805000|2.805000	0.96524|0.96524	0.460000|0.460000	0.39030|0.39030	GCG|CGC	NUP98	-	NULL	ENSG00000110713		0.453	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	92	0.00	0	G	NM_016320		3700873	3700873	-1	no_errors	ENST00000324932	ensembl	human	known	69_37n	missense	24	47.92	23	SNP	1.000	A
PAPD5	64282	genome.wustl.edu	37	16	50259141	50259141	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr16:50259141C>G	ENST00000561678.1	+	9	1444	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	PAPD5_ENST00000573002.1_Intron|PAPD5_ENST00000357464.3_Missense_Mutation_p.S488C|PAPD5_ENST00000436909.3_Missense_Mutation_p.S567C			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	443	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TCTTCAAACTCTTCATCAGGT	0.408																																						dbGAP											0													125.0	121.0	122.0					16																	50259141		1947	4151	6098	-	-	-	SO:0001583	missense	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1370C>G	16.37:g.50259141C>G	ENSP00000455837:p.Ser457Cys		B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.S567C	ENST00000561678.1	37	c.1700		16	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297002	0.81025	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.52057	0.68;0.71	5.53	5.53	0.82687	.	0.303126	0.37809	N	0.001924	T	0.61999	0.2392	L	0.39898	1.24	0.53005	D	0.999962	D	0.89917	1.0	D	0.68192	0.956	T	0.60984	-0.7154	10	0.54805	T	0.06	.	19.8304	0.96632	0.0:1.0:0.0:0.0	.	567	B4DV38	.	C	567;488	ENSP00000396995:S567C;ENSP00000350054:S488C	ENSP00000350054:S488C	S	+	2	0	PAPD5	48816642	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.564000	0.73969	2.775000	0.95449	0.585000	0.79938	TCT	PAPD5	-	NULL	ENSG00000121274		0.408	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1	248	0.00	0	C	NM_022447		50259141	50259141	+1	no_errors	ENST00000436909	ensembl	human	known	69_37n	missense	35	55.13	43	SNP	1.000	G
PIK3R1	5295	genome.wustl.edu	37	5	67591127	67591129	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr5:67591127_67591129delAGA	ENST00000521381.1	+	13	2336_2338	c.1720_1722delAGA	c.(1720-1722)agadel	p.R574del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.R211del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.R274del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.R574del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.R574del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.R304del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.R574del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	574					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R574_T576del(2)|p.R574T(2)|p.R574I(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.L570_D578del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATCCAGCTGAGAAAGACGAGAG	0.379			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	9	Substitution - Missense(3)|Deletion - In frame(3)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(2)|endometrium(2)|central_nervous_system(1)|urinary_tract(1)|lung(1)|breast(1)|ovary(1)																																								-	-	-	SO:0001651	inframe_deletion	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1720_1722delAGA	5.37:g.67591127_67591129delAGA	ENSP00000428056:p.Arg574del		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R574in_frame_del	ENST00000521381.1	37	c.1720_1722	CCDS3993.1	5																																																																																			PIK3R1	-	prints_PI3kinase_P85	ENSG00000145675		0.379	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	200	0.00	0	AGA	NM_181504		67591127	67591129	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	in_frame_del	97	22.83	29	DEL	1.000:1.000:1.000	-
PCDHB10	56126	genome.wustl.edu	37	5	140572714	140572714	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr5:140572714G>A	ENST00000239446.4	+	1	773	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTAGTGTTGGACAAAGCACT	0.498																																						dbGAP											0													121.0	137.0	132.0					5																	140572714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.589G>A	5.37:g.140572714G>A	ENSP00000239446:p.Asp197Asn		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D197N	ENST00000239446.4	37	c.589	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919928	0.33908	.	.	ENSG00000120324	ENST00000239446	T	0.01705	4.68	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02649	0.0080	L	0.36672	1.1	0.30639	N	0.756622	B	0.23806	0.091	B	0.28991	0.097	T	0.11941	-1.0567	9	0.48119	T	0.1	.	15.0394	0.71777	0.0:0.0:1.0:0.0	.	197	Q9UN67	PCDBA_HUMAN	N	197	ENSP00000239446:D197N	ENSP00000239446:D197N	D	+	1	0	PCDHB10	140552898	0.364000	0.24997	0.904000	0.35570	0.881000	0.50899	1.526000	0.35964	1.930000	0.55929	0.556000	0.70494	GAC	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.498	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	65	0.00	0	G	NM_018930		140572714	140572714	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	missense	25	40.48	17	SNP	0.992	A
PLA2G4F	255189	genome.wustl.edu	37	15	42436738	42436738	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr15:42436738G>A	ENST00000382396.4	-	17	1971	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R631C			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	629	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAAGTGAAGCGGGAGGTGAAT	0.617																																						dbGAP											0													80.0	70.0	74.0					15																	42436738		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1885C>T	15.37:g.42436738G>A	ENSP00000371833:p.Arg629Cys		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.R631C	ENST00000382396.4	37	c.1891	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819068	0.90873	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.15017	2.46;2.46	5.84	4.92	0.64577	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.089874	0.49305	D	0.000158	T	0.43299	0.1241	M	0.79258	2.445	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.35226	-0.9797	10	0.72032	D	0.01	-19.4743	15.2314	0.73390	0.068:0.0:0.932:0.0	.	416;629	A2RRC4;Q68DD2	.;PA24F_HUMAN	C	625;631;629;629	ENSP00000380442:R631C;ENSP00000371833:R629C	ENSP00000290497:R625C	R	-	1	0	PLA2G4F	40224030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.758000	0.94735	0.609000	0.83330	CGC	PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	77	0.00	0	G	NM_213600		42436738	42436738	-1	no_errors	ENST00000397272	ensembl	human	known	69_37n	missense	52	11.86	7	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134319670	134319670	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr9:134319670G>A	ENST00000357304.4	+	5	623	c.568G>A	c.(568-570)Gtc>Atc	p.V190I	PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Missense_Mutation_p.V190I|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V190I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	190							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAAAAGGGCGTCTTAGATCT	0.552																																						dbGAP											0													49.0	51.0	50.0					9																	134319670		2038	4199	6237	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.568G>A	9.37:g.134319670G>A	ENSP00000349856:p.Val190Ile		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.V190I	ENST00000357304.4	37	c.568	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273583	0.80580	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.21191	2.02;2.02;2.02	5.54	5.54	0.83059	BAT2, N-terminal (1);	0.410913	0.17223	U	0.182247	T	0.23846	0.0577	L	0.44542	1.39	0.80722	D	1	P	0.45428	0.858	B	0.40741	0.339	T	0.01977	-1.1236	10	0.49607	T	0.09	-25.7014	18.4643	0.90749	0.0:0.0:1.0:0.0	.	190	Q5JSZ5	PRC2B_HUMAN	I	190	ENSP00000384606:V190I;ENSP00000349856:V190I;ENSP00000398853:V190I	ENSP00000349856:V190I	V	+	1	0	PRRC2B	133309491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.436000	0.66538	2.618000	0.88619	0.462000	0.41574	GTC	PRRC2B	-	pfam_BAT2_N	ENSG00000130723		0.552	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		77	0.00	0	G			134319670	134319670	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	24	42.86	18	SNP	1.000	A
PUM2	23369	genome.wustl.edu	37	2	20511409	20511409	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr2:20511409C>T	ENST00000361078.2	-	4	386	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	PUM2_ENST00000420234.1_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.E66K|PUM2_ENST00000319801.5_Missense_Mutation_p.E122K|PUM2_ENST00000338086.5_Missense_Mutation_p.E122K|PUM2_ENST00000403432.1_Missense_Mutation_p.E122K			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	122	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCTGTTTCAGCATCTCTA	0.383																																						dbGAP											0													114.0	103.0	106.0					2																	20511409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.364G>A	2.37:g.20511409C>T	ENSP00000354370:p.Glu122Lys		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E122K	ENST00000361078.2	37	c.364		2	.	.	.	.	.	.	.	.	.	.	C	35	5.541810	0.96474	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21543	2.28;2.54;2.52;2.0;2.28;2.26	5.98	5.98	0.97165	.	0.085474	0.85682	D	0.000000	T	0.31071	0.0785	L	0.39898	1.24	0.80722	D	1	P;B;P	0.45474	0.859;0.421;0.837	P;B;P	0.48873	0.593;0.056;0.465	T	0.00565	-1.1668	10	0.66056	D	0.02	-17.7511	20.4434	0.99119	0.0:1.0:0.0:0.0	.	66;122;122	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	K	122;122;122;13;122;66;122	ENSP00000338173:E122K;ENSP00000354370:E122K;ENSP00000326746:E122K;ENSP00000409905:E13K;ENSP00000385992:E122K;ENSP00000440093:E66K	ENSP00000326746:E122K	E	-	1	0	PUM2	20374890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.855000	0.69510	2.838000	0.97847	0.655000	0.94253	GAA	PUM2	-	NULL	ENSG00000055917		0.383	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		259	0.00	0	C	NM_015317		20511409	20511409	-1	no_errors	ENST00000361078	ensembl	human	known	69_37n	missense	81	35.71	45	SNP	1.000	T
RGS22	26166	genome.wustl.edu	37	8	100994227	100994227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr8:100994227G>A	ENST00000360863.6	-	22	3492	c.3298C>T	c.(3298-3300)Caa>Taa	p.Q1100*	RGS22_ENST00000523287.1_Nonsense_Mutation_p.Q919*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.Q1088*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1100	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCTGGGCTTGCTCTACTGGA	0.383																																						dbGAP											0													209.0	202.0	204.0					8																	100994227		1884	4104	5988	-	-	-	SO:0001587	stop_gained	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3298C>T	8.37:g.100994227G>A	ENSP00000354109:p.Gln1100*		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.Q1100*	ENST00000360863.6	37	c.3298	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	46	12.199826	0.99645	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.3276	0.90259	0.0:0.0:1.0:0.0	.	.	.	.	X	1100;1087;919;1088	.	ENSP00000354109:Q1100X	Q	-	1	0	RGS22	101063403	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.199000	0.95003	2.303000	0.77524	0.585000	0.79938	CAA	RGS22	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000132554		0.383	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	185	0.00	0	G	NM_015668		100994227	100994227	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	nonsense	202	16.18	39	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	33954810	33954810	+	Silent	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr15:33954810G>A	ENST00000389232.4	+	35	5149	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	RYR3_ENST00000415757.3_Silent_p.T1693T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1693	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTCAGGACGAAGGCTCTGA	0.582																																						dbGAP											0													74.0	78.0	76.0					15																	33954810		2036	4202	6238	-	-	-	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5079G>A	15.37:g.33954810G>A			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.T1693	ENST00000389232.4	37	c.5079	CCDS45210.1	15																																																																																			RYR3	-	NULL	ENSG00000198838		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	99	0.00	0	G			33954810	33954810	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	40	28.57	16	SNP	0.223	A
STAT2	6773	genome.wustl.edu	37	12	56748596	56748596	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr12:56748596T>C	ENST00000314128.4	-	7	622	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.Q196R|STAT2_ENST00000557235.1_Missense_Mutation_p.Q196R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	200					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGAGTTTCCTGCAGAATCTT	0.527																																						dbGAP											0													213.0	210.0	211.0					12																	56748596		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.599A>G	12.37:g.56748596T>C	ENSP00000315768:p.Gln200Arg		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q200R	ENST00000314128.4	37	c.599	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954671	0.53293	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.61274	0.12;0.12;0.12	4.69	4.69	0.59074	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.295859	0.33253	N	0.005102	T	0.74846	0.3770	M	0.83483	2.645	0.51767	D	0.999931	D;B;D	0.89917	1.0;0.336;0.997	D;B;D	0.79108	0.983;0.108;0.992	T	0.76740	-0.2848	10	0.48119	T	0.1	-18.8097	10.7244	0.46059	0.0:0.0:0.0:1.0	.	196;196;200	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	R	200;196;196	ENSP00000315768:Q200R;ENSP00000450751:Q196R;ENSP00000387354:Q196R	ENSP00000315768:Q200R	Q	-	2	0	STAT2	55034863	1.000000	0.71417	0.203000	0.23512	0.316000	0.28119	3.403000	0.52615	2.111000	0.64477	0.482000	0.46254	CAG	STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000170581		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	264	0.00	0	T	NM_005419		56748596	56748596	-1	no_errors	ENST00000314128	ensembl	human	known	69_37n	missense	193	19.58	47	SNP	0.998	C
TP53	7157	genome.wustl.edu	37	17	7574002	7574002	+	Missense_Mutation	SNP	C	C	G	rs375338359		TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr17:7574002C>G	ENST00000269305.4	-	10	1214	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R342P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.R342fs*3(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATTCAGCTCTCGGAACATCTC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	18	Whole gene deletion(8)|Substitution - Missense(5)|Deletion - Frameshift(3)|Unknown(1)|Deletion - In frame(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|ovary(2)|large_intestine(1)|stomach(1)											62.0	48.0	53.0					17																	7574002		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1025G>C	17.37:g.7574002C>G	ENSP00000269305:p.Arg342Pro		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342P	ENST00000269305.4	37	c.1025	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097822	0.56075	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.93019	-3.15;-3.15	5.43	2.35	0.29111	p53, tetramerisation domain (3);	0.217683	0.37906	N	0.001893	D	0.93802	0.8018	M	0.70595	2.14	0.19575	N	0.999962	P	0.50943	0.94	P	0.57911	0.829	D	0.86800	0.1991	10	0.59425	D	0.04	-0.3792	4.3338	0.11076	0.1588:0.5914:0.0:0.2498	.	342	P04637	P53_HUMAN	P	342;342;331	ENSP00000269305:R342P;ENSP00000391478:R342P	ENSP00000269305:R342P	R	-	2	0	TP53	7514727	0.035000	0.19736	0.264000	0.24511	0.867000	0.49689	-0.268000	0.08607	0.271000	0.22005	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	61	0.00	0	C	NM_000546		7574002	7574002	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	0.071	G
TRIP10	9322	genome.wustl.edu	37	19	6751165	6751166	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr19:6751165_6751166insA	ENST00000313244.9	+	15	1784_1785	c.1749_1750insA	c.(1750-1752)aaafs	p.K584fs	TRIP10_ENST00000600428.1_Frame_Shift_Ins_p.K420fs|TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.GK537fs|TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.K528fs|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	584	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGGTCAGGCGGAAAGAGGGAGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1752dupA	19.37:g.6751168_6751168dupA	ENSP00000320117:p.Lys584fs		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Frame_Shift_Ins	INS	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E584fs	ENST00000313244.9	37	c.1749_1750		19																																																																																			TRIP10	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000125733		0.619	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	35	0.00	0	-			6751165	6751166	+1	no_errors	ENST00000313244	ensembl	human	known	69_37n	frame_shift_ins	6	57.14	8	INS	1.000:1.000	A
WDFY4	57705	genome.wustl.edu	37	10	49943941	49943941	+	Silent	SNP	C	C	T	rs569142485		TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chr10:49943941C>T	ENST00000325239.5	+	10	1731	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	WDFY4_ENST00000360890.2_Silent_p.H568H|WDFY4_ENST00000413659.2_Silent_p.H568H	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	568						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGAAGGACCACGGCATGGTGC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19938	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													70.0	58.0	61.0					10																	49943941		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1704C>T	10.37:g.49943941C>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H568	ENST00000325239.5	37	c.1704	CCDS44385.1	10																																																																																			WDFY4	-	superfamily_ARM-type_fold	ENSG00000128815		0.527	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		68	0.00	0	C	XM_033379		49943941	49943941	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	silent	27	28.95	11	SNP	0.491	T
ZMYM3	9203	genome.wustl.edu	37	X	70472831	70472831	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Z-01A-11D-A10Y-09	TCGA-C8-A12Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ae68cac5-e561-4094-98fa-2303cdaa6dbb	812e038c-91bd-4e32-bf6b-99922a18b5c0	g.chrX:70472831G>A	ENST00000353904.2	-	2	462	c.275C>T	c.(274-276)cCc>cTc	p.P92L	ZMYM3_ENST00000373981.1_Missense_Mutation_p.P92L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P92L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P92L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P92L|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P92L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P92L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P92L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	92					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CACCTCCGGGGGAGAGGGGGC	0.637																																						dbGAP											0													17.0	18.0	18.0					X																	70472831		2202	4290	6492	-	-	-	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.275C>T	X.37:g.70472831G>A	ENSP00000343909:p.Pro92Leu		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.P92L	ENST00000353904.2	37	c.275	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	15.59	2.877199	0.51801	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	4.76	4.76	0.60689	.	0.506557	0.18409	N	0.142106	T	0.40398	0.1115	N	0.14661	0.345	0.37623	D	0.921397	D;B;B	0.71674	0.998;0.103;0.267	D;B;B	0.76071	0.987;0.027;0.027	T	0.38394	-0.9663	10	0.34782	T	0.22	-3.1224	11.8766	0.52550	0.0:0.1712:0.8288:0.0	.	92;92;92	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	L	92	ENSP00000322845:P92L;ENSP00000363110:P92L;ENSP00000343909:P92L;ENSP00000363096:P92L;ENSP00000363100:P92L;ENSP00000363094:P92L;ENSP00000363093:P92L;ENSP00000363090:P92L	ENSP00000322845:P92L	P	-	2	0	ZMYM3	70389556	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	3.753000	0.55180	2.204000	0.70986	0.287000	0.19450	CCC	ZMYM3	-	NULL	ENSG00000147130		0.637	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	26	0.00	0	G	NM_201599		70472831	70472831	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.999	A
